Varaico: Literature-Extracted Genetic Variants

LYST

579 papers

RefSeq Summary

This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a l...

Pfam Domains

PH_BEACHaa 3020–3115UCSCPH domain associated with Beige/BEACH

Beachaa 3133–3422UCSCBeige/BEACH domain

WD40aa 3606–3644UCSCWD domain, G-beta repeat

WD40aa 3740–3779UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

lysosomal trafficking regulator

HGNC Previous Symbol

CHS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000081.4

p.V552_C553del2

c.1654_1658del6

Surrounding Variants

1 paper

NM_000081.4

p.V541_C553del13

c.1621_1658del39

1 paper

NM_000081.4

p.C553Y

c.1658G>A

1 paper

NM_000081.4

p.H555P

c.1664A>C

2 papers

NM_000081.4

p.V552A

c.1655T>C

1 paper

NM_000081.4

p.Q556R

c.1667A>G

1 paper

NM_000081.4

p.V552L

c.1654G>T

1 paper

NM_000081.4

p.V552L

c.1654G>C

1 paper

NM_000081.4

p.C557S

c.1669T>A

1 paper

NM_000081.4

p.A551A

c.1653A>T

1 paper

NM_000081.4

p.I550M

c.1650T>G

1 paper

NM_000081.4

p.I550V

c.1648A>G

1 paper

NM_000081.4

p.C547_C548del2

c.1639_1643del6